WebNov 15, 2024 · Author summary TTC21B in humans is a known ciliopathy gene and contributes to the pathophysiology of a number of ciliopathies. Mice homozygous for a null allele of Ttc21b also have a spectrum of ciliopathy phenotypes, including microcephaly (small brain). Further work has shown that the severity of the microcephaly significantly … WebJun 1, 2024 · NPHP 12 is caused by the pathogenic mutation of gene TTC21B (OMIM accession number * 612014). Up to recently, only 5 childhood-onset cases have been …
TTC21B - Genomics England
WebTTC21B encodes the protein IFT139, a critical component of the retrograde transport system within the primary cilium. Biallelic, pathogenic TTC21B variants are associated with classic ciliopathy syndromes, including nephronophthisis, Jeune asphyxiating thoracic dystrophy, and Joubert Syndrome, with ciliopathy-spectrum traits such as biliary … WebFeb 17, 2015 · TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 21B; TTC21B (OMIM - 612014) Genes & Proteins . Cytoplasmic dynein 2 intermediate chain 1 (UniProt - Q8WVS4) Similar Articles . To arrive at the top five similar articles we use a word-weighted algorithm to compare words from the Title and Abstract of each citation. how many calories in braunschweiger sandwich
Gene: TTC21B (Tubulointerstitial kidney disease)
WebMay 6, 2024 · TTC21B:tetratricopeptide repeat domain 21B [Gene - OMIM - HGNC] Variant type: single nucleotide variant Cytogenetic location: 2q24.3 Genomic location: Chr2: 165884002 (on Assembly GRCh38) Chr2: 166740512 (on Assembly GRCh37) Preferred name: NM_024753.5(TTC21B):c.3476C>T (p.Ala1159Val) WebSep 1, 2024 · To determine the effect of Ttc21b deficiency in a rapidly progressing ADPKD mouse model, we deleted Ttc21b alone and together with Pkd2 at P0 and examined the … WebApr 13, 2024 · Extreme early-onset hypertensionGene: TTC21B. Green List (high evidence) TTC21B (tetratricopeptide repeat domain 21B) EnsemblGeneIds (GRCh38): … how many calories in bread crumbs